Canonical Allele Identifier: CA258630445
Gene: HEATR5A HGNC NCBI

Linked Data

dbSNP Id: rs751129198
gnomAD v2: 14-31863350-A-T
gnomAD v3: 14-31394144-A-T
gnomAD v4: 14-31394144-A-T
MyVariant Identifiers: chr14:g.31863350A>T (hg19) chr14:g.31394144A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.31394144A>T , CM000676.2:g.31394144A>T GRCh38
NC_000014.8:g.31863350A>T , CM000676.1:g.31863350A>T GRCh37
NC_000014.7:g.30933101A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000543095.7:c.680T>A MANE Select ENSP00000437968.2:p.Phe227Tyr
ENST00000543095.6:c.680T>A ENSP00000437968.2:p.Phe227Tyr
ENST00000549185.5:c.*776T>A ENSP00000446654.1:n.*776T>A
NM_015473.3:c.680T>A NP_056288.2:p.Phe227Tyr
NM_015473.4:c.680T>A MANE Select NP_056288.2:p.Phe227Tyr
Search 100 bp 5'
Search 100 bp 3'